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Structural modeling of a novel CAPN5 mutation that causes uveitis and neovascular retinal detachment.

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Academic year: 2017

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Fig 1. Clinical Imaging. A. The pedigree of a family with clinical features of ADNIV did not show a specific pattern of inheritance
Fig 2. The CAPN5 gene harbors a novel mutation in exon-6. A. Chromatogram of proband showed a heterozygous c.750G > T DNA sequence mutation (arrow) in exon 6 of CAPN5
Fig 3. Protein structure modeling of calpain-5 and ADNIV mutants. A three dimensional model of the calpain-5 catalytic domain II was generated using calpain-9 (the closest sequence match) as a template
Fig 4. Structure and modeling of the Calpain-5 gating loop. The flexible gating loop (colored differently in each panel) can be observed in different conformations across the known structures of the calpain family
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